Antenatal treatment in two Dutch families with pyridoxine-dependent seizures
Antenatal treatment in two Dutch families with pyridoxine-dependent seizures
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DOI：
10.1007/s00431-009-1020-2
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发表时间：
2010-03-01
影响因子：
3.6
通讯作者：
Willemsen, Michel A.
中科院分区：
文献类型：
--
作者：
Bok, Levinus A.;Been, Jasper V.;Willemsen, Michel A.
偶然的报道表明，产前治疗吡哆醇依赖癫痫(PDS)可能会改善患者的神经发育结局。报告了两个患有PDS的家庭，都有两个受影响的兄弟姐妹。每个家庭在第二次妊娠期间开始使用吡哆醇进行产前治疗(分别从妊娠3周和10周开始，每天50和60 mg)。比较每个家庭中未治疗和治疗的儿童在4岁(家庭A)和12岁(家庭B)时的围产期特征和神经发育结果。两例初孕均有羊水粪便污染，其中一例出现异常胎动。在接受治疗的婴儿中，怀孕和分娩都没有并发症。在家庭A中，出生后补充吡哆醇预防了新生儿癫痫发作。家庭A的两个孩子都是低眼压，2岁后开始走路；两个孩子在MRI上都有脑白质改变，第一个孩子接受了斜视治疗。未接受治疗和接受治疗的儿童智商分别为73和98。家庭B的第二个孩子在出生后第7天出现癫痫，因为出生后没有开始吡哆醇维持治疗。服用吡哆醇后，癫痫发作反应迅速。核磁共振显示巨大的脑室和巨大的枕大池。未接受治疗和接受治疗的儿童智商分别为80和106。两个孩子都有正常的运动发育。提示产前补充吡哆醇可有效预防宫内惊厥，降低难产风险，改善PDS的神经发育结局。
Incidental reports suggest that antenatal treatment of pyridoxine dependent seizures (PDS) may improve neurodevelopmental outcome of affected patients. Two families with PDS are reported, both with two affected siblings. Antenatal treatment with pyridoxine was instituted during the second pregnancy in each family (50 and 60 mg daily from 3 and 10 weeks of gestation, respectively). Perinatal characteristics and neurodevelopmental outcome at 4 (Family A) and 12 (Family B) years of age were compared between the untreated and treated child within each family. Meconium-stained amniotic fluid was present in both first pregnancies and abnormal foetal movements were noticed in one. In the treated infants, pregnancy and birth were uncomplicated. In family A, postnatal pyridoxine supplementation prevented neonatal seizures. Both children in family A were hypotonic and started walking after 2 years of age; both had white matter changes on MRI, and the first child was treated for squint. IQ was 73 and 98 in the antenatally untreated and treated child, respectively. The second child in family B developed seizures on the seventh day, because pyridoxine maintenance therapy had not been instituted after birth. Seizures responded rapidly to pyridoxine supplementation. MRI showed large ventricles and a mega cisterna magna. IQ was 80 and 106 in the antenatally untreated and treated child respectively. Both children had normal motor development. These results suggest that antenatal pyridoxine supplementation may be effective in preventing intrauterine seizures, decreasing the risk of complicated birth and improving neurodevelopmental outcome in PDS.